Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Jouberin

Das vom AHI1-Gen kodierte Jouberin ist für die Entwicklung des Groß- und Kleinhirns verantwortlich. Mutationen sind für das autosomal rezessive Joubert-Syndrom Typ 3 verantwortlich.

Gentests:

Klinisch Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp RNS

Verknüpfte Erkrankungen:

Joubert-Syndrom 03
AHI1

Referenzen:

1.

Najmabadi H et al. (2011) Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

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2.

Ferland RJ et al. (2004) Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome.

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3.

Dixon-Salazar T et al. (2004) Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria.

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4.

Parisi MA et al. (2006) AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome.

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5.

Utsch B et al. (2006) Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome.

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6.

Valente EM et al. (2006) AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders.

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7.

Elsayed SM et al. (2015) Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene.

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8.

Jiang X et al. (2002) Ahi-1, a novel gene encoding a modular protein with WD40-repeat and SH3 domains, is targeted by the Ahi-1 and Mis-2 provirus integrations.

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9.

Jiang X et al. (2004) Deregulated expression in Ph+ human leukemias of AHI-1, a gene activated by insertional mutagenesis in mouse models of leukemia.

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10.

Sheng G et al. (2008) Huntingtin-associated protein 1 interacts with Ahi1 to regulate cerebellar and brainstem development in mice.

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11.

Hsiao YC et al. (2009) Ahi1, whose human ortholog is mutated in Joubert syndrome, is required for Rab8a localization, ciliogenesis and vesicle trafficking.

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12.

Lancaster MA et al. (2009) Impaired Wnt-beta-catenin signaling disrupts adult renal homeostasis and leads to cystic kidney ciliopathy.

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13.

Ingason A et al. (2010) A large replication study and meta-analysis in European samples provides further support for association of AHI1 markers with schizophrenia.

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14.

Louie CM et al. (2010) AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis.

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15.

Lancaster MA et al. (2011) Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome.

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16.

Tuz K et al. (2013) The Joubert syndrome-associated missense mutation (V443D) in the Abelson-helper integration site 1 (AHI1) protein alters its localization and protein-protein interactions.

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17.

NCBI article

NCBI 54806 [^]
18.

OMIM.ORG article

Omim 608894 [^]
19.

Orphanet article

Orphanet ID 119549 [^]
Update: 29. April 2019